Variant #0000001852 (NC_000009.12:g.6588676C>T, GLDC(NM_000170.2):c.1607G>A)

Individual ID 00000397
Chromosome 9
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.6588676C>T
Published as -
Reference Nor Azimah Abdul Azize et al. (2014)
DB-ID GLDC_000010
dbSNP ID rs369977771
Frequency 1
Variant remarks -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner Nuur Athirah Binti Mohd Daud
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nuur Athirah Binti Mohd Daud
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
GLDC NM_000170.2 +/. 13 c.1607G>A - r.(?) p.(Arg536Gln) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000411 DNA MLPA;PCR;SEQ GLDC 2 Nuur Athirah Binti Mohd Daud